Disease: Juvenile Neuronal Ceroid Lipofuscinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 GeneticVariation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744 2012
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 GeneticVariation CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717 2011
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 GeneticVariation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884 2010
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 GeneticVariation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115 2009
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 CausalMutation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115 2009
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 GeneticVariation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980 2000
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 CausalMutation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980 2000
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		0.800 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299 1998
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 GeneticVariation CLINVAR A yeast model for the study of Batten disease. 9618513 1998
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		0.800 GeneticVariation UNIPROT Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.800 GeneticVariation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997